A research team from the Andalusian Center for Developmental Biology (CABD), Universidad Pablo de Olavide (UPO) and the Junta de Andalusia has shed light on progeria, a rare disease that accelerates premature aging, in a recently published study in the journal. “EMBO Magazine”.
Progeria is an extremely rare, progressive genetic disease that causes accelerated aging starting in the first two years of life. At birth, the appearance is healthy, but during the first year the first symptoms begin to appear, such as slow growth, loss of fatty tissue and hair loss, and the average life expectancy of a person with progeria is approximately 15 years.
In humans, a specific BAF mutation (A12T) causes Nestor-Guillermo progeroid syndrome, which causes premature aging and various health problems, the CABD statement attached to the CSIC said.
This study focuses on the BAF protein using the Caenorhabditis elegans worm as a working model, mimicking the Nestor-Guillermo progeroid syndrome mutation and observing negative consequences on fertility, lifespan, and resistance to environmental stress.
Moreover, the mutation accelerates the deterioration of nuclear morphology compared to normal cells. At the molecular level, the interaction of BAF with DNA also influences, explains researcher Raquel Romero-Bueno.
This study not only helps position Caenorhabditis elegans as a suitable model for studying disease in complex organisms, but also provides insight into how a mutation in an essential protein that is expressed throughout development and in all cells of the body causes symptoms to occur in about two years. years after birth in humans.
“Up to two years of age, patients do not show obvious signs of the disease, but the mutation affects even the cellular level,” suggesting that the disease is developmental and that a number of signs or manifestations of the disease may precede the most obvious symptoms and may be seen in the future be used as markers of a particular related disease, explained CABD study principal investigator Peter Askjaer.
“In addition, it allows us to study the differences between physiological and pathological aging, allowing us to learn more about the natural aging process, since there are still many mysteries around it,” the researcher concludes.